Diagnosis Day

Teddy was diagnosed with the genetic disorder Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 as a result of exome sequencing. There was a 25% chance of finding the cause of his uniqueness, so we were surprised to get an actual diagnosis.

As far as the diagnosis goes, well, we were astounded to learn this condition was discovered in 2011, and Teddy is the 15th known case in the entire world.

That means when we got married, one of our future children would have a disorder that wouldn't be discovered yet for another 5 years. It's crazy. It's hard to wrap our arms around.

We hadn't really speculated as to what we might learn because we had already eliminated most of Dave's (paranoid) guesses from his research, which didn't include this diagnosis. There's 3 things on Google: two research papers and a NIHS article, all of which we got from our genetics department at Children's Hospital in Milwaukee. In our age of Google, 3 true related hits is insane.

So, the genetics counselor asked if we planned to have more kids. My answer was "Not after today." Dave's thought was "F--- no!" We love Teddy. We love AJ. Way back before Teddy was born with a will stronger than ours, we wanted 3 kiddos (3 healthy boys was my wish). But there's a 25% chance of another Teddy syndrome (and a 50% chance of carrier status). Not a risk we'll take. We had been waiting for these results to see if we would even consider more kids, and this slammed the door shut. That's hard.

Aside from me actually enjoying pregnancy, it ends some dreams. The worst of it is AJ won't have a typical sibling. We feel we're robbing him of that experience. It feels like the best case scenario is he's responsible for taking care of all of us when we get old. And that's so unfair. I know he'll gain immeasurable things like empathy, compassion and acceptance, but it's still not fair to him. This is one of the hardest things to accept.